ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1660C>T (p.Gln554Ter) (rs953440640)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659999 SCV000781926 likely pathogenic Neurofibromatosis, type 1 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756430 SCV000884248 pathogenic not provided 2017-06-07 criteria provided, single submitter clinical testing The NF1 c.1660C>T;p.Gln554Ter variant is listed as pathogenic in a gene-specific database in two individuals (see link below). Additionally, according to a personal communication with the Human Gene Mutation Database, this variant was also included in van Minkelen 2014. The variant is not listed in the ClinVar database, the dbSNP variant database, or in the general population-based databases (Exome Variant Server, Genome Aggregation Database). This variant introduces a premature termination codon and is predicted to result in a truncated or absent protein. Considering available information, this variant is classified as pathogenic. References: Link to NF1 database: van Minkelen R et al. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. Clin Genet. 2014 Apr;85(4):318-27.

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